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- Hess, Timo, et al.
(författare)
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Dissecting the genetic heterogeneity of gastric cancer
- 2023
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Ingår i: EBioMedicine. - : Elsevier. - 2352-3964. ; 92
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Tidskriftsartikel (refereegranskat)abstract
- Background: Gastric cancer (GC) is clinically heterogenous according to location (cardia/non-cardia) and histopathology (diffuse/intestinal). We aimed to characterize the genetic risk architecture of GC according to its subtypes. Another aim was to examine whether cardia GC and oesophageal adenocarcinoma (OAC) and its precursor lesion Barrett's oesophagus (BO), which are all located at the gastro-oesophageal junction (GOJ), share polygenic risk architecture.Methods: We did a meta-analysis of ten European genome-wide association studies (GWAS) of GC and its subtypes. All patients had a histopathologically confirmed diagnosis of gastric adenocarcinoma. For the identification of risk genes among GWAS loci we did a transcriptome-wide association study (TWAS) and expression quantitative trait locus (eQTL) study from gastric corpus and antrum mucosa. To test whether cardia GC and OAC/BO share genetic aetiology we also used a European GWAS sample with OAC/BO.Findings: Our GWAS consisting of 5816 patients and 10,999 controls highlights the genetic heterogeneity of GC according to its subtypes. We newly identified two and replicated five GC risk loci, all of them with subtype-specific association. The gastric transcriptome data consisting of 361 corpus and 342 antrum mucosa samples revealed that an upregulated expression of MUC1, ANKRD50, PTGER4, and PSCA are plausible GC-pathomechanisms at four GWAS loci. At another risk locus, we found that the blood-group 0 exerts protective effects for non-cardia and diffuse GC, while blood-group A increases risk for both GC subtypes. Furthermore, our GWAS on cardia GC and OAC/BO (10,279 patients, 16,527 controls) showed that both cancer entities share genetic aetiology at the polygenic level and identified two new risk loci on the single-marker level.Interpretation: Our findings show that the pathophysiology of GC is genetically heterogenous according to location and histopathology. Moreover, our findings point to common molecular mechanisms underlying cardia GC and OAC/BO.
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| 2. |
- Bertl, Kristina, et al.
(författare)
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Prevalence and severity of periodontal disease in a historical Austrian population.
- 2020
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Ingår i: Journal of Periodontal Research. - : John Wiley & Sons. - 0022-3484 .- 1600-0765. ; 55:6, s. 931-945
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To assess the prevalence and severity of periodontitis based on different diagnostic methods in a historical Austrian population from the early middle ages.Background: The description of the oral health status of archaeological material can provide interesting insights into prevalence, severity, and extent of oral diseases. Herein, the periodontal health status of the skeletal remains of medieval Avars (700-800 AD), which were considered as one of the earliest Avarian settlements in Austria, was investigated.Methods: The skeletal remains of 128 Avars were examined; age and gender were estimated by standard forensic methods and tooth loss and root caries were recorded. Periodontitis was assessed by (a) measurement of the alveolar bone levels (ABL) and (b) evaluation of the interdental septa.Results: A mean ABL of 4.8 mm was determined, root caries tended to accumulate in teeth with a higher alveolar bone loss, and on average, 6.2 teeth were lost antemortem. Independent of the diagnostic method >90% of the subjects were judged as periodontally diseased, and age and tooth type were significant predictors. However, on the tooth level the presence of periodontitis varied considerably depending on the diagnostic method; that is, 7.6% versus 47.2% of the teeth were judged as healthy based on ABL or interdental septa, respectively.Conclusion: The periodontal status of the skeletal remains of medieval Avars revealed a considerable high prevalence of periodontitis (ie, >90% of this population displayed periodontal tissue breakdown). However, the diagnostic method, disease definition, and data presentation should be considered when comparing results of archaeological material.
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| 3. |
- Budreviciute, Aida, et al.
(författare)
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Management and Prevention Strategies for Non-communicable Diseases (NCDs) and Their Risk Factors
- 2020
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Ingår i: Frontiers In Public Health. - : Frontiers Media SA. - 2296-2565. ; 8
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Forskningsöversikt (refereegranskat)abstract
- Non-communicable diseases (NCDs) are of increasing concern for society and national governments, as well as globally due to their high mortality rate. The main risk factors of NCDs can be classified into the categories of self-management, genetic factors, environmental factors, factors of medical conditions, and socio-demographic factors. The main focus is on the elements of self-management and to reach a consensus about the influence of food on risk management and actions toward the prevention of NCDs at all stages of life. Nutrition interventions are essential in managing the risk of NCDs. As they are of the utmost importance, this review highlights NCDs and their risk factors and outlines several common prevention strategies. We foresee that the best prevention management strategy will include individual (lifestyle management), societal (awareness management), national (health policy decisions), and global (health strategy) elements, with target actions, such as multi-sectoral partnership, knowledge and information management, and innovations. The most effective preventative strategy is the one that leads to changes in lifestyle with respect to diet, physical activities, cessation of smoking, and the control of metabolic disorders.
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| 5. |
- Mansouri, Masoumeh, 1985-, et al.
(författare)
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Combining Task and Motion Planning : Challenges and Guidelines
- 2021
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Ingår i: Frontiers in Robotics and AI. - : Frontiers Media S.A.. - 2296-9144. ; 8
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Tidskriftsartikel (refereegranskat)abstract
- Combined Task and Motion Planning (TAMP) is an area where no one-fits-all solution can exist. Many aspects of the domain, as well as operational requirements, have an effect on how algorithms and representations are designed. Frequently, trade-offs have to be madet o build a system that is effective. We propose five research questions that we believe need to be answered to solve real-world problems that involve combined TAMP. We show which decisions and trade-offs should be made with respect to these research questions, and illustrate these on examples of existing application domains. By doing so, this article aims to provide a guideline for designing combined TAMP solutions that are adequate and effective in the target scenario.
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